Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.
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DOI: 10.1016/j.ajhg.2018.08.014
Abstract: Inherited GPI deficiencies (IGDs) are a subset of congenital disorders of glycosylation that are increasingly recognized as a result of advances in whole-exome sequencing (WES) and whole-genome sequencing (WGS). IGDs cause a series of overlapping phenotypes… read more here.
Keywords: akinesia; fetal akinesia; pigs encoding; encoding gpi ... See more keywords